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Literature References (literature + reference)
Selected AbstractsMultiple endocrine neoplasia type 2 RET protooncogene database: Repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations,HUMAN MUTATION, Issue 4 2009Rebecca L. Margraf Abstract Multiple endocrine neoplasia type 2 (MEN2) is an inherited, autosomal-dominant disorder caused by deleterious mutations within the RET protooncogene. MEN2 RET mutations are mainly heterozygous, missense sequence changes found in RET exons 10, 11, and 13,16. Our group has developed the publicly available, searchable MEN2 RET database to aid in genotype/phenotype correlations, using Human Genome Variation Society recommendations for sequence variation nomenclature and database content. The MEN2 RET database catalogs all RET sequence variation relevant to the MEN2 syndromes, with associated clinical information. Each database entry lists a RET sequence variation's location within the RET gene, genotype, pathogenicity classification, MEN2 phenotype, first literature reference, and comments (which may contain information on other clinical features, complex genotypes, and additional literature references). The MEN2 phenotype definitions were derived from the International RET Mutation Consortium guidelines for classification of MEN2 disease phenotypes. Although nearly all of the 132 RET sequence variation entries initially cataloged in the database were from literature reports, novel sequence variation and updated phenotypic information for any existing database entry can be submitted electronically on the database website. The database website also contains links to selected MEN2 literature reviews, gene and protein information, and RET reference sequences. The MEN2 RET database (www.arup.utah.edu/database/MEN2/MEN2_welcome.php) will serve as a repository for MEN2-associated RET sequence variation and reference for RET genotype/MEN2 phenotype correlations. Hum Mutat 0,1,9, 2009. © 2009 Wiley-Liss, Inc. [source] Paediatric emergency guidelines: Could one size fit all?EMERGENCY MEDICINE AUSTRALASIA, Issue 1 2009Sarah Dalton Abstract Objectives: The development of clinical practice guidelines (CPG) is a core task in EDs and CPGs are widely used. The process of CPGs development in Australian and New Zealand ED is unknown. We aim to describe this process in paediatric EDs and examine the feasibility of developing collaborative guidelines. Methods: A piloted questionnaire regarding CPG development, dissemination, implementation and evaluation was circulated to all 13 Paediatric Research in Emergency Departments International Collaborative (PREDICT) sites. Specific questions regarding feasibility of combined guidelines were included. Results: All PREDICT EDs participated in the survey. All used CPGs in EDs and 12/13 had ED-specific guidelines. EDs had an average of 77 guidelines with approximately 5 new guidelines generated annually. Staff at most sites (10/13) also accessed guidelines from external sources. Most hospitals (10/13) had a guideline committee, generally comprising of senior ED and general paediatric staff. Guidelines were usually written by committee members and 10/13 hospitals adopted modified external guidelines. An average committee met six times a year for 90 min and involved seven clinicians. Most sites did not have a project manager or dedicated secretarial support. Few hospitals included literature references (3/13) or levels of evidence (1/13) in their guidelines. Most did not consider implementation, evaluation or teaching packages. Most sites (10/13) supported the development of collaborative guidelines. Conclusions: Paediatric EDs expend significant resources to develop CPGs. Collaborative guidelines would likely decrease duplication of effort and increase the number of available, current and evidence-based CPGs. [source] Multiple endocrine neoplasia type 2 RET protooncogene database: Repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations,HUMAN MUTATION, Issue 4 2009Rebecca L. Margraf Abstract Multiple endocrine neoplasia type 2 (MEN2) is an inherited, autosomal-dominant disorder caused by deleterious mutations within the RET protooncogene. MEN2 RET mutations are mainly heterozygous, missense sequence changes found in RET exons 10, 11, and 13,16. Our group has developed the publicly available, searchable MEN2 RET database to aid in genotype/phenotype correlations, using Human Genome Variation Society recommendations for sequence variation nomenclature and database content. The MEN2 RET database catalogs all RET sequence variation relevant to the MEN2 syndromes, with associated clinical information. Each database entry lists a RET sequence variation's location within the RET gene, genotype, pathogenicity classification, MEN2 phenotype, first literature reference, and comments (which may contain information on other clinical features, complex genotypes, and additional literature references). The MEN2 phenotype definitions were derived from the International RET Mutation Consortium guidelines for classification of MEN2 disease phenotypes. Although nearly all of the 132 RET sequence variation entries initially cataloged in the database were from literature reports, novel sequence variation and updated phenotypic information for any existing database entry can be submitted electronically on the database website. The database website also contains links to selected MEN2 literature reviews, gene and protein information, and RET reference sequences. The MEN2 RET database (www.arup.utah.edu/database/MEN2/MEN2_welcome.php) will serve as a repository for MEN2-associated RET sequence variation and reference for RET genotype/MEN2 phenotype correlations. Hum Mutat 0,1,9, 2009. © 2009 Wiley-Liss, Inc. [source] HIGH-RESOLUTION MAGIC ANGLE SPINNING NMR ANALYSIS OF WHOLE CELLS OF CHAETOCEROS MUELLERI (BACILLARIOPHYCEAE) AND COMPARISON WITH 13C-NMR AND DISTORTIONLESS ENHANCEMENT BY POLARIZATION TRANSFER 13C-NMR ANALYSIS OF LIPOPHILIC EXTRACTS,JOURNAL OF PHYCOLOGY, Issue 3 2004Matilde S. Chauton Lipid composition in extracted samples of Chaetoceros muelleri Lemmermann was studied with 13C-NMR and distortionless enhancement by polarization transfer (DEPT) 13C-NMR, resulting in well-resolved 13C-NMR spectra with characteristic resonance signals from carboxylic, olefinic, glyceryl, methylene, and methyl groups. The application of a DEPT pulse sequence aided in the assignment of methylene and methine groups. Resonance signals were compared with literature references, and signal assignment included important unsaturated fatty acids such as eicosapentaenoic and docosahexaenoic and also phospholipids and glycerols. Results from the extracted samples were used to assign resonance signals in a high-resolution magic angle spinning (HR MAS) DEPT 13C spectrum from whole cells of C. muelleri. The NMR analysis on whole cells yielded equally good information on fatty acids and also revealed signals from carbohydrates and amino acids. Broad resonance signals and peak overlapping can be a problem in whole cell analysis, but we found that application of HR MAS gave a well-resolved spectrum. The chemical shift of metabolites in an NMR spectrum depends on the actual environment of nuclei during analysis, and some differences could therefore be expected between extracted and whole cell samples. The shift differences were small, and assignment from analysis of lipophilic extract could be used to identify peaks in the whole cell spectrum. HR MAS 13C-NMR therefore offers a possibility for broad-range metabolic profiling directly on whole cells, simultaneously detecting metabolites that are otherwise not detected in the same analytical set up and avoiding tedious extraction procedures. [source] Speciation of oxidation states of elements by capillary electrophoresisJOURNAL OF SEPARATION SCIENCE, JSS, Issue 11 2003Marek Trojanowicz Abstract Progress made in the last five years in the application of capillary electrophoresis methods to chemical speciation of elements is reported on the basis of over 100 literature references. The main trends observed include development of new on- and off-capillary derivatization methods, application of new detection methods, and especially coupling of CE separation systems to powerful atomic spectroscopy and mass spectrometry instruments with various ionization techniques, providing either a sensitive element-specific detection method or a third dimension for high performance separation. Besides numerous CZE and MEKC capillary electrophoresis methods only very few examples of CE speciation with capillary electrochromatography can be found. Concerning the chemical forms of elements determined, the new procedures developed are mostly focused on redox speciation of various oxidation states of elements, metal-bound high molecular compounds, and organometallic species. [source] Risks of allogeneic hand transplantationMICROSURGERY, Issue 2 2004Steffen Baumeister M.D. A patient undergoing allogeneic hand transplantation needs lifelong immunosuppression with the risk of serious side effects, including life-threatening disease. The question remains: does the eventual improvement in function justify the risk? To answer this question, we try to assess the risks based on a large body of cumulative data derived from more 200,000 kidney transplants using the Collaborative Transplantation Study (CTS). Only selective data which apply to a patient population aged between 15,40 years were used (n = 58,310). Data are compared to the literature references and show superiority with respect to patient numbers, statistics, actuality, and methodology. The CTS data show that the incidence of de novo malignancies is lower than previously reported. The risk of developing any form of cancer is approximately 3%, of developing a skin cancer 1.1%, and of developing a lymphoma 0.58% within 5 years after transplantation. The risk of suffering from a cataract is 11% after 5 years, which is also lower than previously reported. Although the incidence of side effects (particularly malignant disease) is likely to be lower than previously thought, the risk-benefit question must be answered by each hand surgeon for each individual patient. © 2004 Wiley-Liss, Inc. [source] Executive Summary: The International Consultation on Incontinence 2008,Committee on: "Dynamic Testing"; for urinary incontinence and for fecal incontinence. part 1: Innovations in Urodynamic Techniques and Urodynamic Testing for signs and symptoms of urinary incontinence in female patients,,NEUROUROLOGY AND URODYNAMICS, Issue 1 2010Peter F.W.M. Rosier Abstract Aims The members of The International Consultation on Incontinence 2008 (Paris) Committee on Dynamic Testing' provide an executive summary of the chapter ,Dynamic Testing' that discusses (urodynamic) testing methods for patients with signs and or symptoms of urinary incontinence. Testing of patients with signs and or symptoms of faecal incontinence is also discussed. Methods Evidence based and consensus committee report. Results The chapter ,Dynamic Testing' is a continuation of previous Consultation-reports added with a new systematic literature search and expert discussion. Conclusions, based on the published evidence and recommendations, based on the integration of evidence with expert experience and discussion are provided separately, for transparency. Conclusion This first part of a series of three articles summarizes the committees recommendations about the innovations in urodynamic study techniques ,in general', about the test characteristics and normal values of urodynamic studies as well as the assessment of female with signs and or symptoms of incontinence and includes only the most recent and relevant literature references. Neurourol. Urodynam. 29: 140,145, 2010. © 2009 Wiley-Liss, Inc. [source] | |||||||||||||